title: Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
abstract: We performed Southern analysis of mitochondrial DNA (mtDNA) in 6 tissues from a patient with Kearns-Sayre syndrome and found a single deletion of 4.9 kb in all tissues. The percentage of deleted mtDNAs varied widely between tissues, from only 4% in smooth muscle to approximately 50% in skeletal muscle. Samples of DNA obtained from 3 different skeletal muscles and from separate areas of individual tissues showed little variation in percentage of deleted mtDNA. Biochemical analysis showed no clear correlation between mitochondrial enzyme activity and deleted mtDNAs.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032.
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: A F
authors.initials: AF
authors.lastname: Miranda
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: P
authors.initials: P
authors.lastname: Lewis
authors.forename: M A
authors.initials: MA
authors.lastname: Whelan
authors.forename: C A
authors.initials: CA
authors.lastname: Ellsworth
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D015139:Blotting, Southern; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics / Q000378:metabolism*; D008928:Mitochondria / Q000201:enzymology*; D008931:Mitochondria, Muscle / Q000201:enzymology; D009886:Ophthalmoplegia / Q000378:metabolism*; D015183:Restriction Mapping; D014018:Tissue Distribution
chemical_list: D004272:DNA, Mitochondrial